ClinVar Miner

List of variants in gene TRPC6 reported as pathogenic for inherited focal segmental glomerulosclerosis

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_004621.6(TRPC6):c.428A>G (p.Asn143Ser) rs121434391 0.00018
NM_004621.6(TRPC6):c.524G>A (p.Arg175Gln) rs1451194842 0.00001
NM_004621.6(TRPC6):c.2620A>T (p.Lys874Ter) rs121434393
NM_004621.6(TRPC6):c.2643dup (p.Gly882fs) rs1858816064
NM_004621.6(TRPC6):c.2683C>T (p.Arg895Cys) rs121434394
NM_004621.6(TRPC6):c.2684G>T (p.Arg895Leu) rs1591517912
NM_004621.6(TRPC6):c.2689G>A (p.Glu897Lys) rs121434395
NM_004621.6(TRPC6):c.335C>A (p.Pro112Gln) rs121434390
NM_004621.6(TRPC6):c.523C>T (p.Arg175Trp) rs869025541
NM_004621.6(TRPC6):c.808T>A (p.Ser270Thr) rs121434392

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